Genetics & health

PREVENTIVE & SOCIAL MEASURES

By BALASUBRAMANIAM.S

PREVENTIVE & SOCIAL MEASURES

HEALTH PROMOTIONAL MEASURES SPECIFIC PROTECTION EARLY DIAGNOSIS & TREATMENT REHABILITATION

HEALTH PROMOTIONAL MEASURES EUGENICS EUTHENICS GENETIC COUNSELLING OTHER GENETIC PREVENTIVE MEASURES

EUGENICS

It is a science aims to improve genetic endowment of human population.

POSITIVE EUGENICS NEGATIVE EUGENICS

NEGATIVE EUGENICS Hitler sought to improve German race by Killing the weak and defective. People who are suffering from serious Hereditary diseases are Debarred from producing children. Its not possible to eliminate genetic defects because of fresh mutations.

POSITIVE EUGENICS
Improve the genetic composition by making the persons to realize the burden of parenthood. E.g. Improve traits for intelligence and positive character ,say blood groups. Disadvantage Multi factorial, Difficult to expect direct results Cannot determine the gene we transmit

EUTHENICS Improved genotype is given access to suitable environment. It makes them to express readily. Interaction between hereditary and environmental factors. E.g. Mentally retarded child improved IQ on exposure to certain environmental factors.

GENETIC COUNSELLING

Prospective genetic counseling

Retrospective genetic counseling

PROSPECTIVE GENETIC COUNSELING Identifying the heterozygous individuals & explaining them risk of having affected children. Used for Sickle cell anemia Thalassemia

RETROSPECTIVE GENETIC COUNSELING

It is the most used now a days. Identifying the family in which the hereditary disorder has already occurred. WHO - congenital anomalies, mental retardation, inborn errors of metabolism. It can be done in developed areas or where these problems contribute serious public health problems.

OTHER GENETIC PREVENTIVE MEASURES

Consanguineous marriages Increased risk in traits receiving recessive genes, & those determined by poly genes. Albinism Alkaptonuria PKU. In japan deaths rate of 116 per 1000 was found in 1st 8yrs of life among offspring of first cousins against 55 among controls.

Late marriages Trisomy21 mongolism more frequent in elderly mothers. Incidence in mother at age 20 1:3000 Incidence in mother at age 40 1:40

SPECIFIC PROTECTION Protecting the individuals from mutations. Avoiding unnecessary exposure of gonads to radiation. E.g. X-ray for twin pregnancy & lie of foetus. Anti-D for erythroblatosis foetalis

EARLY DIAGNOSIS & TREATMENT Detection of genetic carriers Prenatal diagnosis Screening of newborn infants Recognizing preclinical cases

DETECTION OF GENETIC CARRIERS Identify the healthy carriers of genetic disorders & inborn metabolic errors. Elevated serum levels of serum creatine kinase can be detected from 80% of female carriers of duchenne type of muscular dystrophy. Moderate amount of carriers can be detected from Hemophilia, PKU, Galectosaemia. No method to distinguish carriers of Alkaptonuria.

PRENATAL DIAGNOSIS
Amniocentesis in early pregnancy [14-16wks] can reveal Chromosomal abnormalities Downs syndrome. Inborn errors of metabolism Alpha thalessemmia Neural tube defects Tay-sachs Galactosemia Maple syrup urine disease

Indications
Advanced maternal age, Previous child with chromosome aberration, Intrauterine growth delay Biochemical disorders Congenital anomaly

methods
Cytogenitics (amniocentesis, chorionic villus sampling)

Protein assay, DNA diagnosis Sonography, foetoscopy

Screening for neural tube defects and trisomy

Maternal serum alpha fetal protein, chorionic gonadotrophin.

SCREENING OF NEWBORN INFANTS

It can be done for Genetic abnormalities Sex Chromosomal abnormalities Congenital dislocation of the hip PKU Congenital Hypothyroidism Sickle cell disease Cystic fibrosis G6pd congenital adrenal hyperplasia Duchenne type of muscular dystrophy

RECOGNIZING PRECLINICAL CASES

Lists of screening test for recognizing hereditary diseases.
Heterozygous of PKU Phenyl alanine tolerance test. Urine examination of sugar Diabetics. Uric acid- gout. GTT - Sibs & close relatives of diabetics acholuric jaundice. Blood picture Thalessemmia minor.

Type of service
Primary prevention

Condiions

Preventive or screening action

Use antiD Immunization of girls Addition of folic acid Control of maternal diabetes Avoidance of mutagens USG, maternal alpha feto protein Maternal age, serum factor, family history Carriers for Tay sachs, hemoglobinopathies Examination of new born for early treatment (congenital dislocation) Biochemical tests for early treatment

Rh hemolytic disease Congenital rubella Congenital malformations

Antenatal screening

Congenital malformations Chromosomal abnormalities Inherited disease

Neonatal screening

Congenital malformations

PKU Congenital Hypothyroidism Sickle cell disease

REHABILITATION It can be done for patients having physical and mental disability to lead a better and useful life.